Literature DB >> 3351685

Craniometaphyseal dysplasia with increased bone turnover and secondary hyperparathyroidism: therapeutic effect of calcitonin.

S Fanconi1, J A Fischer, P Wieland, A Giedion, E Boltshauser, A J Olah, A M Landolt, A Prader.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1988        PMID： 3351685     DOI： 10.1016/s0022-3476(88)80176-8

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


× No keyword cloud information.
  10 in total

1.  Craniometaphyseal dysplasia (CMD), autosomal dominant form.

Authors:  P Beighton
Journal:  J Med Genet       Date:  1995-05       Impact factor: 6.318

Review 2.  Craniotubular bone disorders.

Authors:  R J Gorlin
Journal:  Pediatr Radiol       Date:  1994

3.  The gene for autosomal dominant craniometaphyseal dysplasia maps to chromosome 5p and is distinct from the growth hormone-receptor gene.

Authors:  P Nürnberg; S Tinschert; M Mrug; J Hampe; C R Müller; E Fuhrmann; H S Braun; A Reis
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  A Phe377del mutation in ANK leads to impaired osteoblastogenesis and osteoclastogenesis in a mouse model for craniometaphyseal dysplasia (CMD).

Authors:  I-Ping Chen; Liping Wang; Xi Jiang; Hector Leonardo Aguila; Ernst J Reichenberger
Journal:  Hum Mol Genet       Date:  2010-12-13       Impact factor: 6.150

5.  Cardiopulmonary arrest caused by craniometaphyseal dysplasia.

Authors:  Ayako Chida; Youichi Yanagawa; Hiroshi Matsumoto; Shigeaki Nonoyama
Journal:  Indian J Pediatr       Date:  2011-02-17       Impact factor: 1.967

6.  Cerebellomedullary compression in recessive craniometaphyseal dysplasia.

Authors:  E Boltshauser; B Schmitt; W Wichmann; A Valavanis; H Sailer; Y Yonekawa
Journal:  Neuroradiology       Date:  1996-05       Impact factor: 2.804

7.  Bone marrow-derived osteoclast-like cells from a patient with craniometaphyseal dysplasia lack expression of osteoclast-reactive vacuolar proton pump.

Authors:  T Yamamoto; N Kurihara; K Yamaoka; K Ozono; M Okada; K Yamamoto; S Matsumoto; T Michigami; J Ono; S Okada
Journal:  J Clin Invest       Date:  1993-01       Impact factor: 14.808

8.  Introduction of a Phe377del mutation in ANK creates a mouse model for craniometaphyseal dysplasia.

Authors:  I-Ping Chen; Chiachien J Wang; Sara Strecker; Boguslawa Koczon-Jaremko; Adele Boskey; Ernst J Reichenberger
Journal:  J Bone Miner Res       Date:  2009-07       Impact factor: 6.741

9.  Progressive ankylosis protein (ANK) in osteoblasts and osteoclasts controls bone formation and bone remodeling.

Authors:  Hyon Jong Kim; Takeshi Minashima; Edward F McCarthy; Jeffrey A Winkles; Thorsten Kirsch
Journal:  J Bone Miner Res       Date:  2010-08       Impact factor: 6.741

Review 10.  Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.

Authors:  Taha Faruqi; Naveen Dhawan; Jaya Bahl; Vineet Gupta; Shivani Vohra; Khin Tu; Samir M Abdelmagid
Journal:  Biomed Res Int       Date:  2014-10-22       Impact factor: 3.411
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.